Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome (Q28306951)

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Luigi Boccuto

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Julia L Sharp

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Alka Dwivedi

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Chin-Fu Chen

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Jonathan D Rollins

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R Curtis Rogers

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Katy Phelan

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Barbara R DuPont

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

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language of work or name

English

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publication date

July 2014

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published in

Human Genetics

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volume

133

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issue

7

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page(s)

847-59

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cites work

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Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions

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The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

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Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

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Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

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Glypican-3 promotes the growth of hepatocellular carcinoma by stimulating canonical Wnt signaling

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A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

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Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

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Novel de novo SHANK3 mutation in autistic patients

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Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients

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Finishing the euchromatic sequence of the human genome

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Molecular and phenotypic characterization of ring chromosome 22

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Further delineation of the 22q13 deletion syndrome

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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

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Computational and experimental identification of novel human imprinted genes

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Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

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Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

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Growth in Phelan–McDermid syndrome

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U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.

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Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

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Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

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Inverted duplication with terminal deletion of 5p and no cat-like cry.

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Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

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Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

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12 December 2020

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

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12 December 2020

2000 CDC Growth Charts for the United States: methods and development

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12 December 2020

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

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12 December 2020

United States head circumference growth reference charts: birth to 21 years

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12 December 2020

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism

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12 December 2020

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome

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12 December 2020